{"id":"W4283068919","doi":"10.1002/bdr2.2058","title":"Genotype–phenotype spectrum and correlations in <scp>Xia‐Gibbs</scp> syndrome: Report of five novel cases and literature review","year":2022,"lang":"en","type":"review","venue":"Birth Defects Research","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Phenotype; Epigenetics; Genetics; Biology; Genotype; Exome sequencing; DNA methylation; Gene; Loss function; Genome instability; Exome; Hypotonia; DNA damage; DNA; Gene expression","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0009616171,0.0003434166,0.0009692269,0.0003947759,0.0001768158,0.00006094455,0.0002813034,0.0003114493,0.00003461242],"category_scores_gemma":[0.002864288,0.0002976948,0.0002371412,0.0008516422,0.0001855306,0.00000630965,0.0007193436,0.0006719796,0.000005045286],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004878256,"about_ca_system_score_gemma":0.0008109061,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006289651,"about_ca_topic_score_gemma":0.00007325265,"domain_scores_codex":[0.9973505,0.0003880227,0.000593168,0.0008261013,0.0003795449,0.0004626835],"domain_scores_gemma":[0.9980841,0.0005942197,0.0002716098,0.0007014486,0.0001501053,0.0001985334],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"systematic_review","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001445119,0.002110418,0.002540118,0.6443173,0.002341449,0.05515549,0.0008435374,0.00003289989,0.0009260894,0.002093544,0.03296906,0.2565256],"study_design_scores_gemma":[0.0002106912,0.0003419817,0.0006184058,0.009881184,0.0001629051,0.008366671,0.00004909137,0.000002128981,0.00000546701,0.00003942635,0.9801572,0.0001648473],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0134485,0.9840353,0.000002281905,0.00002039277,0.00009576864,0.00131371,0.0006303176,0.000006479055,0.0004472485],"genre_scores_gemma":[0.00300833,0.9932514,0.0000595846,0.00003050509,0.00007916409,0.0001721494,0.001535199,0.00006404836,0.001799656],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9471881,"threshold_uncertainty_score":0.9999475,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04832447169163216,"score_gpt":0.3553368163679377,"score_spread":0.3070123446763056,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}